A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076504



Internal ID18977762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224918282..224919683hg38UCSC Ensembl
chr2:225782999..225784400hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg381402
hg191402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3773051
SamplesKWP1
Known GenesDOCK10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076504
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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